The FDA ( Food and Drug Administration ) has granted Breakthrough Therapy designation to Olipudase alfa. This enzyme replacement therapy is being investigated for the treatment of patients with non-ne ...

Using combinations of well-known approved drugs has for the first time been shown to be potentially safe in treating a rare disease.
The study has also shown some promising preliminary results for th ...

A multicentre observational study was aimed to assess the prevalence of late-onset Pompe disease ( LOPD ) in a large high-risk population, using the dried blood spot ( DBS ) as a main screening tool.
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Attacks of neuropathic pain, usually abdominal, are characteristic of the acute porphyrias and accompanied by overproduction of heme-precursor molecules, specifically delta-aminolevulinic acid and por ...

The European Medicines Agency ( EMA ) has recommended granting a marketing authorisation to Jinarc ( Tolvaptan ).
Jinarc is indicated to slow the progression of cyst development and failing kidney f ...

Pseudomonas aeruginosa is the main pathogen in bronchopulmonary infections in cystic fibrosis ( CF ) patients. It can only be eradicated at early infection stages while reduction of its bacterial load ...

Nitisinone ( Orfadin ) has transformed the management of hereditary tyrosinaemia type 1 ( HT1 ). However, the risk of developing hepatocellular carcinoma is related to the age at which treatment is co ...

Anakinra ( Kineret ) is a recombinant form of interleukin-1 receptor antagonist. It is the drug of choice for Schnitzler syndrome and cryopyrin-associated periodic syndromes.
It has also recently be ...